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Aliases for TBC1D20 Gene

Aliases for TBC1D20 Gene

  • TBC1 Domain Family, Member 20 2 3
  • C20orf140 3 4 6
  • WARBM4 3 6
  • Chromosome 20 Open Reading Frame 140 2
  • TBC1 Domain Family Member 20 3

External Ids for TBC1D20 Gene

Previous HGNC Symbols for TBC1D20 Gene

  • C20orf140

Previous GeneCards Identifiers for TBC1D20 Gene

  • GC20M000367

Summaries for TBC1D20 Gene

Entrez Gene Summary for TBC1D20 Gene

  • This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for TBC1D20 Gene

TBC1D20 (TBC1 Domain Family, Member 20) is a Protein Coding gene. Diseases associated with TBC1D20 include warburg micro syndrome 4 and warburg micro syndrome.

UniProtKB/Swiss-Prot for TBC1D20 Gene

  • GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D20 Gene

Genomics for TBC1D20 Gene

Regulatory Elements for TBC1D20 Gene

Genomic Location for TBC1D20 Gene

435,480 bp from pter
462,553 bp from pter
27,074 bases
Minus strand

Genomic View for TBC1D20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D20 Gene

Proteins for TBC1D20 Gene

  • Protein details for TBC1D20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TBC1 domain family member 20
    Protein Accession:
    Secondary Accessions:
    • A8K6I3
    • B9A6M1
    • Q5JWQ7
    • Q6ZSY8
    • Q96NE1
    • Q9BYM7
    • Q9H140

    Protein attributes for TBC1D20 Gene

    403 amino acids
    Molecular mass:
    45855 Da
    Quaternary structure:
    • Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.

    Three dimensional structures from OCA and Proteopedia for TBC1D20 Gene

    Alternative splice isoforms for TBC1D20 Gene


neXtProt entry for TBC1D20 Gene

Proteomics data for TBC1D20 Gene at MOPED

Post-translational modifications for TBC1D20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D20 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TBC1D20

No data available for DME Specific Peptides for TBC1D20 Gene

Domains for TBC1D20 Gene

Protein Domains for TBC1D20 Gene


Suggested Antigen Peptide Sequences for TBC1D20 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q96BZ9
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D20: view

No data available for Gene Families for TBC1D20 Gene

Function for TBC1D20 Gene

Molecular function for TBC1D20 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude

Gene Ontology (GO) - Molecular Function for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17684057
GO:0005515 protein binding IPI 17684057
GO:0017137 Rab GTPase binding IPI 17684057
genes like me logo Genes that share ontologies with TBC1D20: view
genes like me logo Genes that share phenotypes with TBC1D20: view

miRNA for TBC1D20 Gene

miRTarBase miRNAs that target TBC1D20

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D20

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBC1D20 Gene

Localization for TBC1D20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D20 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for TBC1D20 Gene COMPARTMENTS Subcellular localization image for TBC1D20 gene
Compartment Confidence
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 22491470
GO:0005789 endoplasmic reticulum membrane IDA 17684057
GO:0030173 integral component of Golgi membrane IDA 17684057
GO:0031965 nuclear membrane IDA 17684057
genes like me logo Genes that share ontologies with TBC1D20: view

Pathways for TBC1D20 Gene

SuperPathways for TBC1D20 Gene

No Data Available

Interacting Proteins for TBC1D20 Gene

Gene Ontology (GO) - Biological Process for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly IEA --
GO:0002088 lens development in camera-type eye --
GO:0006888 ER to Golgi vesicle-mediated transport IMP 21680502
GO:0007030 Golgi organization IMP 17684057
GO:0007283 spermatogenesis --
genes like me logo Genes that share ontologies with TBC1D20: view

No data available for Pathways by source for TBC1D20 Gene

Transcripts for TBC1D20 Gene

Unigene Clusters for TBC1D20 Gene

TBC1 domain family, member 20:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D20

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D20 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP7: - - -
SP8: -

Relevant External Links for TBC1D20 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBC1D20 Gene

mRNA expression in normal human tissues for TBC1D20 Gene

Protein differential expression in normal tissues for TBC1D20 Gene

This gene is overexpressed in Bone (28.2) and Peripheral blood mononuclear cells (17.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D20 Gene

SOURCE GeneReport for Unigene cluster for TBC1D20 Gene Hs.590876

genes like me logo Genes that share expressions with TBC1D20: view

Expression partners for TBC1D20 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D20 Gene

Orthologs for TBC1D20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D20 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TBC1D20 35
  • 92.72 (n)
  • 97.27 (a)
TBC1D20 36
  • 97 (a)
(Canis familiaris)
Mammalia TBC1D20 35
  • 92.8 (n)
  • 95.04 (a)
TBC1D20 36
  • 95 (a)
(Mus musculus)
Mammalia Tbc1d20 35
  • 89.3 (n)
  • 93.28 (a)
Tbc1d20 16
Tbc1d20 36
  • 93 (a)
(Pan troglodytes)
Mammalia TBC1D20 35
  • 99.01 (n)
  • 99.01 (a)
TBC1D20 36
  • 93 (a)
(Rattus norvegicus)
Mammalia Tbc1d20 35
  • 88.89 (n)
  • 93.53 (a)
(Monodelphis domestica)
Mammalia TBC1D20 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
-- 36
  • 57 (a)
(Gallus gallus)
Aves TBC1D20 35
  • 80.38 (n)
  • 90.57 (a)
TBC1D20 36
  • 91 (a)
(Anolis carolinensis)
Reptilia TBC1D20 36
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10618 35
tbc1d20.1 35
  • 73.89 (n)
  • 79.9 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC52691 35
(Danio rerio)
Actinopterygii tbc1d20 35
  • 70.61 (n)
  • 76.05 (a)
zgc63863 35
tbc1d20 36
  • 75 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008312 35
  • 54.2 (n)
  • 45.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17883 35
  • 49.88 (n)
  • 45.74 (a)
CG17883 36
  • 35 (a)
(Caenorhabditis elegans)
Secernentea tbc-20 35
  • 49.6 (n)
  • 40.14 (a)
tbc-20 36
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP8 36
  • 16 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05272 35
  • 44.1 (n)
  • 35.77 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gyp10 35
  • 41.7 (n)
  • 32.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
Species with no ortholog for TBC1D20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D20 Gene

Gene Tree for TBC1D20 (if available)
Gene Tree for TBC1D20 (if available)

Paralogs for TBC1D20 Gene

No data available for Paralogs for TBC1D20 Gene

Variants for TBC1D20 Gene

Sequence variations from dbSNP and Humsavar for TBC1D20 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs6695 -- 435,505(+) caaac(A/G)ttatt utr-variant-3-prime, nc-transcript-variant
rs150207 -- 459,799(+) CACTT(C/T)ATCTG intron-variant
rs157795 -- 458,461(+) GACAA(A/G)CTCCA intron-variant
rs157796 -- 460,464(+) AACTC(C/G)ACGTC intron-variant
rs157797 -- 461,103(+) CAAAA(C/T)ATGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D20 Gene

Variant ID Type Subtype PubMed ID
nsv458842 CNV Loss 19166990
dgv4509n71 CNV Gain 21882294
nsv912568 CNV Gain 21882294
nsv9774 CNV Gain 18304495
nsv469833 CNV Gain 16826518
esv2535181 CNV Deletion 19546169
esv2677224 CNV Deletion 23128226
esv1050414 CNV Deletion 17803354

Relevant External Links for TBC1D20 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D20 Gene

Disorders for TBC1D20 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for TBC1D20 Gene in MalaCards »

(5) Diseases for TBC1D20 Gene including...

(1) OMIM Diseases for TBC1D20 Gene (611663)


  • Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269 PubMed:24239381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBC1D20

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with TBC1D20: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for TBC1D20 Gene

Publications for TBC1D20 Gene

  1. A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication. (PMID: 17686842) Sklan E.H. … Glenn J.S. (J. Virol. 2007) 3 4
  2. TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. (PMID: 17901050) Sklan E.H. … Glenn J.S. (J. Biol. Chem. 2007) 2 3
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TBC1D20 Gene

Sources for TBC1D20 Gene

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